Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 100
rs2511241
P2RY2
1.000 0.120 11 73234296 missense variant C/G;T snv 4.0E-06; 0.93 1
rs2734705
CLCA1
0.925 0.120 1 86486641 missense variant A/G snv 0.86 0.87 2
rs373533
ADGRE1 ; LOC105372256
0.925 0.160 19 6919613 missense variant A/C snv 0.77 0.73 2
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 106
rs5743618
TLR1
0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 20
rs2228607
STX1A
0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53 2
rs213950
CFTR-AS1 ; CFTR
0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 16
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 14
rs880633
CHI3L1
0.925 0.160 1 203183673 missense variant T/C snv 0.45 0.41 2
rs4363087
BUD23 ; STX1A ; LOC105375350
0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32 3
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs2077079
SFTPB
0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 2
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs3024798
SFTPB
1.000 0.120 2 85667185 splice region variant G/A;T snv 0.36 1
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs1078761
BPIFB1
1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 2
rs1124
SFTPC ; BMP1
0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 3
rs3741156
P2RY2
1.000 0.120 11 73235095 missense variant G/A;C snv 0.29 0.20 1
rs1136451
SFTPA1
1.000 0.120 10 79612325 synonymous variant A/G snv 0.21 0.17 1
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 51
rs1626154
P2RY2
1.000 0.120 11 73235159 missense variant C/A;G;T snv 4.1E-06; 1.0E-04; 0.15 1
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 54
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 201